ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1359T>C (p.Tyr453=)

dbSNP: rs756580864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106346 SCV002434142 likely benign Nephronophthisis 2023-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729092 SCV005340907 likely benign NPHP1-related disorder 2024-08-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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